NANP N-acetylneuraminic acid phosphatase [Homo sapiens (human)] - Gene

Summary

Official Symbol: NANPprovided by HGNC
Official Full Name: N-acetylneuraminic acid phosphataseprovided by HGNC
Primary source: HGNC:HGNC:16140
See related: Ensembl:ENSG00000170191 MIM:610763; AllianceGenome:HGNC:16140
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HDHD4; C20orf147; dJ694B14.3
Summary: Enables N-acylneuraminate-9-phosphatase activity. Involved in CMP-N-acetylneuraminate biosynthetic process; N-acetylneuraminate biosynthetic process; and glycosylation. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in adrenal (RPKM 2.0), testis (RPKM 1.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p11.21

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (25612935..25624014, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (25678481..25689560, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (25593571..25604650, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acylneuraminate-9-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables N-acylneuraminate-9-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in CMP-N-acetylneuraminate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in N-acetylglucosamine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in N-acetylneuraminate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in N-acetylneuraminate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: N-acylneuraminate-9-phosphatase

Names: Neu5Ac-9-Pase; haloacid dehalogenase-like hydrolase domain containing 4; haloacid dehalogenase-like hydrolase domain-containing protein 4

NP_689880.1

EC 3.1.3.29

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.